RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Arteritis
Accession: DOID:9002564
browse the term
Definition: INFLAMMATION of any ARTERIES.
Synonyms: exact_synonym: Arterial Inflammation; Arteritides
primary_id: MESH:D001167
xref: EFO:0009011
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19022366
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Pon1
paraoxonase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19022366
NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
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Proc
protein C, inactivator of coagulation factors Va and VIIIa
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17139375
NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133
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Cx3cl1
C-X3-C motif chemokine ligand 1
ISO
protein:increased expression:serum
RGD
PMID:23470165
RGD:9068463
NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833
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Eln
elastin
ISO
RGD
PMID:12643515
RGD:9585739
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Fgf2
fibroblast growth factor 2
ISO
RGD
PMID:15965421
RGD:8655581
NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221
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Gdnf
glial cell derived neurotrophic factor
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Gfra1
GDNF family receptor alpha 1
ISO
RGD
PMID:9853108
RGD:6218983
NCBI chr 1:257,315,682...257,552,004
Ensembl chr 1:257,321,742...257,551,473
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Vegfa
vascular endothelial growth factor A
ISO
RGD
PMID:15965421
RGD:8655581
NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641
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Arvcf
ARVCF, delta catenin family member
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,588,137...82,645,832
Ensembl chr11:82,587,881...82,645,805
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Atp6v1e1
ATPase H+ transporting V1 subunit E1
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:154,022,358...154,044,486
Ensembl chr 4:154,022,358...154,044,584
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Bcl2l13
Bcl2-like 13
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:154,056,116...154,112,890
Ensembl chr 4:154,056,127...154,108,985
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Bid
BH3 interacting domain death agonist
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:154,113,198...154,136,353
Ensembl chr 4:154,113,198...154,134,720
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C11h22orf39
similar to human chromosome 22 open reading frame 39
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,155,992...82,160,235
Ensembl chr11:82,159,528...82,160,235
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Cdc45
cell division cycle 45
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
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Cecr2
CECR2, histone acetyl-lysine reader
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:153,890,310...153,998,078
Ensembl chr 4:153,890,206...153,993,451
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Cldn5
claudin 5
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,212,822...82,214,248
Ensembl chr11:82,211,475...82,214,992
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Comt
catechol-O-methyltransferase
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
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Dgcr2
DiGeorge syndrome critical region gene 2
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:83,093,961...83,144,507
Ensembl chr11:83,094,037...83,144,502
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Dgcr6
DiGeorge syndrome critical region gene 6
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,927,725...82,932,823
Ensembl chr11:82,927,725...82,932,823
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Ess2
ess-2 splicing factor homolog
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:83,075,893...83,085,849
Ensembl chr11:83,075,925...83,084,846
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Gnb1l
G protein subunit beta 1 like
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,425,301...82,507,836
Ensembl chr11:82,432,627...82,507,466
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Gp1bb
glycoprotein Ib platelet subunit beta
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,378,216...82,379,393
Ensembl chr11:82,378,199...82,379,392
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Gsc2
goosecoid homeobox 2
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:83,070,784...83,075,874
Ensembl chr11:83,072,138...83,074,126
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Hdhd5
haloacid dehalogenase like hydrolase domain containing 5
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:153,701,026...153,753,303
Ensembl chr 4:153,718,791...153,753,277
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Hira
histone cell cycle regulator
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,024,469...82,133,212
Ensembl chr11:82,024,469...82,133,529
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Il17ra
interleukin 17 receptor A
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
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Mical3
microtubule associated monooxygenase, calponin and LIM domain containing 3
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:154,152,776...154,353,274
Ensembl chr 4:154,153,834...154,302,590
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Mrpl40
mitochondrial ribosomal protein L40
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,133,398...82,139,234
Ensembl chr11:82,133,398...82,139,233
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Pex26
peroxisomal biogenesis factor 26
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952
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Prodh
proline dehydrogenase
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,910,043...82,927,305
Ensembl chr11:82,910,137...82,927,305
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Septin5
septin 5
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,373,601...82,379,393
Ensembl chr11:82,369,754...82,379,393
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Slc25a1
solute carrier family 25 member 1
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:83,055,764...83,058,781
Ensembl chr11:83,055,748...83,058,781
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Slc25a18
solute carrier family 25 member 18
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:154,000,808...154,021,373
Ensembl chr 4:154,000,990...154,021,372
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Tango2
transport and golgi organization 2 homolog
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574
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Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Tmem121b
transmembrane protein 121B
ISO
ClinVar Annotator: match by term: Polyarteritis nodosa, childhoood-onset | ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:153,695,191...153,700,104
Ensembl chr 4:153,698,194...153,699,912
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Tssk2
testis-specific serine kinase 2
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:83,086,578...83,087,933
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Tuba8
tubulin, alpha 8
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:154,440,045...154,456,918
Ensembl chr 4:154,440,074...154,456,917
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Txnrd2
thioredoxin reductase 2
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,519,996...82,568,156
Ensembl chr11:82,519,999...82,568,156
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Ufd1
ubiquitin recognition factor in ER associated degradation 1
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr11:82,161,618...82,185,107
Ensembl chr11:82,161,619...82,185,087
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Usp18
ubiquitin specific peptidase 18
ISO
ClinVar Annotator: match by term: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
ClinVar
PMID:24552284 PMID:24552285 PMID:26607704 PMID:27930337 PMID:28492532
NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144
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Ager
advanced glycosylation end product-specific receptor
ISO
protein:decreased expression:serum
RGD
PMID:20579752
RGD:8695992
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Il2
interleukin 2
susceptibility disease_progression
ISO
DNA:polymorphism::-300G>T(human)
RGD
PMID:17002904 PMID:2574087
RGD:8663467 , RGD:8693331
NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
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Mlx
MAX dimerization protein MLX
susceptibility
ISO
DNA:SNP:cd: p.Q139R A>G (rs665268) (human) DNA:missense mutation:cd: p.Q139R(rs665268) (human)
RGD
PMID:30354298 PMID:23830516
RGD:401794441 , RGD:401824641
NCBI chr10:86,019,216...86,024,326
Ensembl chr10:86,019,588...86,032,350
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Mmp3
matrix metallopeptidase 3
treatment
ISO
RGD
PMID:23100088
RGD:8693315
NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
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Mmp9
matrix metallopeptidase 9
disease_progression
ISO
RGD
PMID:23100088
RGD:8693315
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Nos2
nitric oxide synthase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25101153
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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RT1-CE16
RT1 class I, locus CE16
susceptibility
ISO
DNA:polymorphism,haplotypes::HLA-A*3001 (human)
RGD
PMID:17428358
RGD:401827100
NCBI chr20:3,257,109...3,260,747
Ensembl chr20:3,257,123...3,279,563
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RT1-Db1
RT1 class II, locus Db1
susceptibility
ISO
DNA:polymorphism,haplotype::DRB1*0802 (human)
RGD
PMID:17428358
RGD:401827100
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
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Ccl2
C-C motif chemokine ligand 2
ISO
RGD
PMID:15742444
RGD:1581162
NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226
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Chi3l1
chitinase 3 like 1
ISO
protein:increased secretion:serum (human)
RGD
PMID:10616010
RGD:5024918
NCBI chr13:45,641,802...45,649,787
Ensembl chr13:45,641,802...45,649,787
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Crh
corticotropin releasing hormone
no_association
ISO
DNA:polymorphism:promoter
RGD
PMID:12051390
RGD:1581301
NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
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Crp
C-reactive protein
ISO
protein:increased expression:blood:
RGD
PMID:15206651
RGD:9491785
NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178
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Csf2
colony stimulating factor 2
ISO
RGD
PMID:9844760
RGD:11059502
NCBI chr10:38,386,945...38,388,926
Ensembl chr10:38,386,945...38,389,199
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Dll1
delta like canonical Notch ligand 1
ISO
mRNA:increased expression:temporal artery
RGD
PMID:21220737
RGD:6482238
NCBI chr 1:56,312,062...56,320,177
Ensembl chr 1:56,312,066...56,320,179
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Eln
elastin
ISO
RGD
PMID:9101501
RGD:9585754
NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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Fcgr2a
Fc gamma receptor 2A
ISO
DNA:polymorphism: :p.H131R (human)
RGD
PMID:16846526
RGD:5147974
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Fcgr3a
Fc gamma receptor 3A
ISO
DNA:polymorphism (human)
RGD
PMID:16846526
RGD:5147974
NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Ifng
interferon gamma
severity
ISO
DNA:repeats:intron:
RGD
PMID:15675129
RGD:8157621
NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
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Il17a
interleukin 17A
severity susceptibility
ISO
mRNA, protein:increased expression:temporal artery (human) DNA:snps:promoter, 3' utr: c.-197A>G (rs2275913), c.*159A>G (rs7747909) (human)
RGD
PMID:22993227 PMID:24919468
RGD:8698666 , RGD:9068454
NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889
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Il18
interleukin 18
no_association
ISO
DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human) DNA:SNP:promoter:-137G>C (rs187238) (human)
RGD
PMID:20331879 PMID:20331879
RGD:8655865 , RGD:8655865
NCBI chr 8:50,904,630...50,932,887
Ensembl chr 8:50,906,960...50,932,887
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Il21r
interleukin 21 receptor
ISO
RGD
PMID:22147555
RGD:6892962
NCBI chr 1:180,168,028...180,195,690
Ensembl chr 1:180,168,097...180,195,522
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Il4
interleukin 4
ISO
DNA:SNP, haplotype: :rs2227284 (human)
RGD
PMID:15570643
RGD:7829811
NCBI chr10:37,771,203...37,776,750
Ensembl chr10:37,771,203...37,776,750
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Jag1
jagged canonical Notch ligand 1
ISO
mRNA,protein:increased expression:temporal artery,leukocytes, mononuclear
RGD
PMID:21220737
RGD:6482238
NCBI chr 3:124,406,783...124,442,220
Ensembl chr 3:124,406,794...124,442,209
G
Mbl2
mannose binding lectin 2
ISO
DNA:polymorphism:cds:
RGD
PMID:12375325
RGD:8693752
NCBI chr 1:228,016,439...228,024,736
G
Mfge8
milk fat globule EGF and factor V/VIII domain containing
ISO
RGD
PMID:11748647
RGD:1582497
NCBI chr 1:133,064,665...133,080,069
Ensembl chr 1:133,064,665...133,080,073
G
Mmp2
matrix metallopeptidase 2
ISO
protein:increased activity:temporal artery
RGD
PMID:17502363
RGD:8657040
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
G
Mmp9
matrix metallopeptidase 9
no_association
ISO
protein:increased expression:temporal artery (human) protein:increased activity:temporal artery DNA:SNPs:promoter, CDS:rs17576, rs3918242, rs3918252 (human) DNA:SNP:CDS:rs2250889 (human) protein:increased expression:serum
RGD
PMID:15998676 PMID:17502363 PMID:18512818 PMID:18512818 PMID:8843867
RGD:1580575 , RGD:8657040 , RGD:8547902 , RGD:8547902 , RGD:8547826
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Ptpn22
protein tyrosine phosphatase, non-receptor type 22
no_association
ISO
DNA:polymorphism: :p.R620W (rs2476601) (human) DNA:polymorphism: :1858C>T (human)
RGD
PMID:23946333 PMID:16078327
RGD:7829739 , RGD:7829744
NCBI chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779
G
RT1-Db1
RT1 class II, locus Db1
onset
ISO
associated with Polymyalgia Rheumatica;DNA:polymorphisms (human) DNA:polymorphism (human)
RGD
PMID:20064872 PMID:16846526
RGD:5147583 , RGD:5147974
NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
G
Tlr4
toll-like receptor 4
susceptibility no_association
ISO
DNA:polymorphism: :896A>G(rs4986790)(human) DNA:polymorphism: :896A>G,1196C>T(human)
RGD
PMID:19531762 PMID:21586524
RGD:7777158 , RGD:7777159
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all